ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645464513
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
395114
ClinVar RCV:
RCV000462092
ClinVar Variation:
411837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ile269Thr
CA3396003
NM_001999.4:c.806T>C